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    BIOMARKER:

    KIT exon 18 mutation

    i
    Other names: KIT, KIT proto-oncogene receptor tyrosine kinase, C-Kit, CD117, PBT, SCFR, Stem Cell Factor Receptor, V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
    Entrez ID:
    3815
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    over2years
    FGFR2::TACC2 fusion as a novel KIT-independent mechanism of targeted therapy failure in a multidrug-resistant gastrointestinal stromal tumor. (PubMed, Genes Chromosomes Cancer)
    Herein, we report a patient presenting with a primary small bowel spindle cell GIST and concurrent peritoneal and liver metastases displaying an imatinib-sensitive KIT exon 11 in-frame deletion. We present the first report of a multi-drug resistant GIST patient who developed an FGFR2 gene fusion as a secondary genetic event to the selective pressure of various TKIs. This case also highlights the heterogeneous escape mechanisms to targeted therapy across various tumor nodules, spanning from both KIT-dependent and KIT-independent off-target activation pathways.
    Journal
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    FGFR2 (Fibroblast growth factor receptor 2) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase) • FGFR4 (Fibroblast growth factor receptor 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • AKT2 (V-akt murine thymoma viral oncogene homolog 2)
    |
    FGFR2 mutation • FGFR2 fusion • FGFR mutation • CDKN2A deletion • MTAP deletion • CDKN2A mutation • FGFR fusion • KIT exon 11 mutation • FGFR overexpression • FGFR1 fusion • FGFR4 mutation • KIT exon 13 mutation • FGFR4 amplification • KIT exon 18 mutation • AKT2 amplification
    |
    imatinib